Incidental Mutation 'R4977:Clcn4'
| ID |
382754 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clcn4
|
| Ensembl Gene |
ENSMUSG00000000605 |
| Gene Name |
chloride channel, voltage-sensitive 4 |
| Synonyms |
Clc4-2, Clcn4-2 |
| MMRRC Submission |
042572-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4977 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
7285308-7303837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 7294436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 411
(I411F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148174
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000619]
[ENSMUST00000209916]
[ENSMUST00000210061]
[ENSMUST00000210362]
[ENSMUST00000210594]
[ENSMUST00000211574]
|
| AlphaFold |
Q61418 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000619
AA Change: I442F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000000619
Gene: ENSMUSG00000000605
AA Change: I442F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
Pfam:Voltage_CLC
|
149 |
552 |
2.7e-111 |
PFAM |
|
CBS
|
596 |
646 |
1.07e-1 |
SMART |
|
CBS
|
687 |
734 |
4.92e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209916
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210061
AA Change: I411F
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210318
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210362
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210444
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210594
AA Change: I382F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211574
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211551
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 92.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. Chloride channel 4 has an evolutionary conserved CpG island and is conserved in both mouse and hamster. This gene is mapped in close proximity to APXL (Apical protein Xenopus laevis-like) and OA1 (Ocular albinism type I), which are both located on the human X chromosome at band p22.3. The physiological role of chloride channel 4 remains unknown but may contribute to the pathogenesis of neuronal disorders. Alternate splicing results in two transcript variants that encode different proteins. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no obvious phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,026,899 (GRCm39) |
D910G |
probably benign |
Het |
| Amy1 |
C |
T |
3: 113,363,026 (GRCm39) |
|
probably null |
Het |
| C1s2 |
A |
G |
6: 124,612,598 (GRCm39) |
M19T |
probably damaging |
Het |
| Cadps2 |
A |
G |
6: 23,599,478 (GRCm39) |
I276T |
probably damaging |
Het |
| Cdyl2 |
A |
G |
8: 117,302,008 (GRCm39) |
C458R |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,325,062 (GRCm39) |
S35P |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,760,336 (GRCm39) |
L2027P |
possibly damaging |
Het |
| Cyp3a57 |
T |
C |
5: 145,286,236 (GRCm39) |
|
probably null |
Het |
| Dis3l |
A |
C |
9: 64,214,483 (GRCm39) |
S919A |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,882,275 (GRCm39) |
T616A |
probably benign |
Het |
| Emx2 |
A |
G |
19: 59,447,678 (GRCm39) |
T11A |
probably damaging |
Het |
| Fbxl18 |
A |
G |
5: 142,871,840 (GRCm39) |
L465P |
probably damaging |
Het |
| Fbxw27 |
G |
A |
9: 109,601,187 (GRCm39) |
T311I |
probably damaging |
Het |
| Fhip1b |
A |
T |
7: 105,038,542 (GRCm39) |
D232E |
probably damaging |
Het |
| Fstl5 |
C |
T |
3: 76,317,801 (GRCm39) |
Q156* |
probably null |
Het |
| Ggn |
G |
T |
7: 28,871,621 (GRCm39) |
G334C |
probably damaging |
Het |
| Grik2 |
T |
C |
10: 49,008,841 (GRCm39) |
N749D |
probably damaging |
Het |
| Helb |
A |
G |
10: 119,946,786 (GRCm39) |
S176P |
probably benign |
Het |
| Hyal1 |
A |
G |
9: 107,456,153 (GRCm39) |
D73G |
probably benign |
Het |
| Ifi205 |
C |
A |
1: 173,842,574 (GRCm39) |
R374I |
probably benign |
Het |
| Ift172 |
A |
T |
5: 31,429,460 (GRCm39) |
V567D |
possibly damaging |
Het |
| Ighv1-43 |
A |
T |
12: 114,909,845 (GRCm39) |
S26T |
possibly damaging |
Het |
| Il21 |
C |
A |
3: 37,286,653 (GRCm39) |
S21I |
probably damaging |
Het |
| Jam3 |
A |
G |
9: 27,009,669 (GRCm39) |
V309A |
probably damaging |
Het |
| Kcnh4 |
A |
T |
11: 100,637,659 (GRCm39) |
L666Q |
probably damaging |
Het |
| Kcnk10 |
A |
G |
12: 98,406,946 (GRCm39) |
V250A |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,044,677 (GRCm39) |
Y192C |
probably damaging |
Het |
| Lamb2 |
G |
A |
9: 108,364,846 (GRCm39) |
R1200H |
probably damaging |
Het |
| Lilra6 |
T |
G |
7: 3,917,382 (GRCm39) |
R204S |
probably benign |
Het |
| Lrrn1 |
A |
G |
6: 107,545,668 (GRCm39) |
I489V |
probably benign |
Het |
| Mdh2 |
T |
A |
5: 135,812,263 (GRCm39) |
D57E |
probably damaging |
Het |
| Mfsd2a |
A |
G |
4: 122,844,302 (GRCm39) |
S282P |
probably benign |
Het |
| Midn |
T |
A |
10: 79,986,018 (GRCm39) |
I36N |
probably damaging |
Het |
| Mpped1 |
A |
T |
15: 83,680,907 (GRCm39) |
|
probably benign |
Het |
| Myh10 |
A |
G |
11: 68,689,197 (GRCm39) |
D1258G |
possibly damaging |
Het |
| Nup62 |
T |
C |
7: 44,478,449 (GRCm39) |
S155P |
possibly damaging |
Het |
| Or2g7 |
A |
T |
17: 38,378,638 (GRCm39) |
H192L |
possibly damaging |
Het |
| Or2t46 |
A |
G |
11: 58,472,455 (GRCm39) |
T262A |
possibly damaging |
Het |
| Or52ab7 |
A |
T |
7: 102,978,040 (GRCm39) |
M116L |
probably benign |
Het |
| Pex7 |
T |
C |
10: 19,745,078 (GRCm39) |
T258A |
probably benign |
Het |
| Plg |
A |
G |
17: 12,621,976 (GRCm39) |
D432G |
probably damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,971,337 (GRCm39) |
S144T |
probably damaging |
Het |
| Prkch |
T |
C |
12: 73,749,667 (GRCm39) |
F420S |
possibly damaging |
Het |
| Psg26 |
A |
G |
7: 18,209,235 (GRCm39) |
V391A |
probably benign |
Het |
| Psg29 |
G |
A |
7: 16,942,556 (GRCm39) |
G186R |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,699,574 (GRCm39) |
I1357K |
possibly damaging |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,123 (GRCm39) |
|
probably benign |
Het |
| Runx1 |
T |
A |
16: 92,441,235 (GRCm39) |
|
probably null |
Het |
| Sapcd1 |
A |
T |
17: 35,245,427 (GRCm39) |
S119T |
possibly damaging |
Het |
| Sema5a |
T |
A |
15: 32,679,332 (GRCm39) |
N870K |
probably damaging |
Het |
| Serpina3f |
G |
A |
12: 104,183,314 (GRCm39) |
E59K |
probably benign |
Het |
| Slc8b1 |
A |
G |
5: 120,662,352 (GRCm39) |
K299E |
possibly damaging |
Het |
| Slco1b2 |
G |
A |
6: 141,603,283 (GRCm39) |
M221I |
probably benign |
Het |
| Smg5 |
C |
T |
3: 88,263,032 (GRCm39) |
Q812* |
probably null |
Het |
| Smr3a |
T |
G |
5: 88,155,962 (GRCm39) |
|
probably null |
Het |
| Syt9 |
G |
A |
7: 107,103,479 (GRCm39) |
D426N |
probably damaging |
Het |
| Tcf25 |
T |
C |
8: 124,115,374 (GRCm39) |
Y204H |
probably benign |
Het |
| Tmeff2 |
T |
A |
1: 51,018,715 (GRCm39) |
C232* |
probably null |
Het |
| Tmem184a |
C |
A |
5: 139,793,757 (GRCm39) |
G219V |
probably null |
Het |
| Tnc |
G |
T |
4: 63,924,485 (GRCm39) |
T1071K |
possibly damaging |
Het |
| Tnn |
C |
A |
1: 159,948,188 (GRCm39) |
G842W |
probably damaging |
Het |
| Tshz3 |
T |
A |
7: 36,470,615 (GRCm39) |
I868N |
probably benign |
Het |
| Ulbp1 |
C |
T |
10: 7,397,391 (GRCm39) |
R238H |
probably benign |
Het |
| Ushbp1 |
C |
T |
8: 71,847,693 (GRCm39) |
|
probably null |
Het |
| Usp34 |
G |
C |
11: 23,438,982 (GRCm39) |
D3515H |
probably damaging |
Het |
| Wdr91 |
T |
C |
6: 34,887,726 (GRCm39) |
E10G |
probably damaging |
Het |
| Xdh |
A |
T |
17: 74,205,965 (GRCm39) |
F1016L |
probably benign |
Het |
| Zfp235 |
T |
G |
7: 23,841,609 (GRCm39) |
I676S |
possibly damaging |
Het |
| Zfp619 |
G |
A |
7: 39,186,811 (GRCm39) |
C947Y |
probably damaging |
Het |
| Zfp663 |
A |
G |
2: 165,195,731 (GRCm39) |
S163P |
probably damaging |
Het |
| Zfp93 |
A |
G |
7: 23,974,836 (GRCm39) |
I274V |
probably benign |
Het |
| Zswim4 |
C |
T |
8: 84,953,296 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Clcn4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00978:Clcn4
|
APN |
7 |
7,290,672 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01090:Clcn4
|
APN |
7 |
7,297,035 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01650:Clcn4
|
APN |
7 |
7,287,280 (GRCm39) |
splice site |
probably benign |
|
|
IGL02404:Clcn4
|
APN |
7 |
7,290,857 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02493:Clcn4
|
APN |
7 |
7,287,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02556:Clcn4
|
APN |
7 |
7,299,065 (GRCm39) |
missense |
probably benign |
|
|
IGL02661:Clcn4
|
APN |
7 |
7,294,730 (GRCm39) |
splice site |
probably null |
|
|
IGL02816:Clcn4
|
APN |
7 |
7,298,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02882:Clcn4
|
APN |
7 |
7,293,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03205:Clcn4
|
APN |
7 |
7,293,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03289:Clcn4
|
APN |
7 |
7,287,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Delipidated
|
UTSW |
7 |
7,296,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0183:Clcn4
|
UTSW |
7 |
7,298,090 (GRCm39) |
nonsense |
probably null |
|
|
R0379:Clcn4
|
UTSW |
7 |
7,299,791 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0555:Clcn4
|
UTSW |
7 |
7,293,503 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0890:Clcn4
|
UTSW |
7 |
7,291,964 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1463:Clcn4
|
UTSW |
7 |
7,299,763 (GRCm39) |
nonsense |
probably null |
|
|
R1549:Clcn4
|
UTSW |
7 |
7,294,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1563:Clcn4
|
UTSW |
7 |
7,296,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1966:Clcn4
|
UTSW |
7 |
7,287,184 (GRCm39) |
makesense |
probably null |
|
|
R2764:Clcn4
|
UTSW |
7 |
7,299,798 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2874:Clcn4
|
UTSW |
7 |
7,293,520 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4023:Clcn4
|
UTSW |
7 |
7,293,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4024:Clcn4
|
UTSW |
7 |
7,293,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4152:Clcn4
|
UTSW |
7 |
7,297,833 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4154:Clcn4
|
UTSW |
7 |
7,297,833 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4298:Clcn4
|
UTSW |
7 |
7,299,737 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4535:Clcn4
|
UTSW |
7 |
7,290,813 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4574:Clcn4
|
UTSW |
7 |
7,290,804 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5158:Clcn4
|
UTSW |
7 |
7,294,618 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5302:Clcn4
|
UTSW |
7 |
7,297,050 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5369:Clcn4
|
UTSW |
7 |
7,299,032 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5624:Clcn4
|
UTSW |
7 |
7,291,943 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5626:Clcn4
|
UTSW |
7 |
7,292,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5723:Clcn4
|
UTSW |
7 |
7,294,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6154:Clcn4
|
UTSW |
7 |
7,294,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6259:Clcn4
|
UTSW |
7 |
7,294,529 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6396:Clcn4
|
UTSW |
7 |
7,297,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6783:Clcn4
|
UTSW |
7 |
7,302,181 (GRCm39) |
unclassified |
probably benign |
|
|
R7320:Clcn4
|
UTSW |
7 |
7,294,827 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7562:Clcn4
|
UTSW |
7 |
7,298,081 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7586:Clcn4
|
UTSW |
7 |
7,296,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7752:Clcn4
|
UTSW |
7 |
7,296,936 (GRCm39) |
missense |
probably benign |
|
|
R7860:Clcn4
|
UTSW |
7 |
7,296,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7872:Clcn4
|
UTSW |
7 |
7,290,780 (GRCm39) |
missense |
probably benign |
|
|
R7895:Clcn4
|
UTSW |
7 |
7,298,167 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8069:Clcn4
|
UTSW |
7 |
7,299,758 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8083:Clcn4
|
UTSW |
7 |
7,294,427 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9185:Clcn4
|
UTSW |
7 |
7,287,197 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9281:Clcn4
|
UTSW |
7 |
7,294,813 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9333:Clcn4
|
UTSW |
7 |
7,292,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9682:Clcn4
|
UTSW |
7 |
7,299,797 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0019:Clcn4
|
UTSW |
7 |
7,294,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Clcn4
|
UTSW |
7 |
7,297,755 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Clcn4
|
UTSW |
7 |
7,296,039 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTTCCAGCGATCTCAAGGGC -3'
(R):5'- CACCAGTGAGCTCATCTCTG -3'
Sequencing Primer
(F):5'- AGCAGACTGTGTGGTCTAATAG -3'
(R):5'- CTGAGCTCTTCAACGATTGTG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation